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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 28"
Page 1
Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS, Liu XZ. Kabahuma RI, et al. Mol Genet Genomic Med. 2022 Oct;10(10):e2015. doi: 10.1002/mgg3.2015. Epub 2022 Aug 27. Mol Genet Genomic Med. 2022. PMID: 36029164 Free PMC article.
BACKGROUND: DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM #609761) on chromosome 22q13. ...METHODS: Target sequencing, using a custom capture panel of 180 known and candidate genes associated with se …
BACKGROUND: DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM # …
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S. Yousaf R, et al. PLoS Genet. 2018 Mar 28;14(3):e1007297. doi: 10.1371/journal.pgen.1007297. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29590114 Free PMC article.
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. ...Their actions at the interface of cell signaling and bioenergetic homeostasis can impact many biological processes. The c.2510G>A transition variant is …
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. ...Their actions a …
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P. Gao X, et al. Neural Plast. 2017;2017:3192090. doi: 10.1155/2017/3192090. Epub 2017 Jun 13. Neural Plast. 2017. PMID: 28695016 Free PMC article.
In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. To evaluate the importance of TMPRSS3 mutations in recessive deafness among the Chinese, we screened 150 autosomal recessive nonsyndromic hearing …
In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. To evaluate the importance of TMPRSS3 mu …
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Cohn ES, et al. Pediatrics. 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. Pediatrics. 1999. PMID: 10049954
Half of this hearing loss is genetic and approximately 80% of genetic hearing loss is nonsyndromic and inherited in an autosomal recessive manner. Approximately 50% of childhood nonsyndromic recessive hearing loss is caused by mutations in the connexin 26 (Cx …
Half of this hearing loss is genetic and approximately 80% of genetic hearing loss is nonsyndromic and inherited in an autosomal r …
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Kelley PM, et al. Am J Hum Genet. 1998 Apr;62(4):792-9. doi: 10.1086/301807. Am J Hum Genet. 1998. PMID: 9529365 Free PMC article.
This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recessive nonsyndromic deafness. Twenty of the 58 families were observed to have mutations in both alleles of Cx26. .. …
This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal rec …